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The proliferation of clinically distinct muscular dystrophies due to mutations in the same gene (phenotypic heterogeneity) is a challenge for the neurologist who is not a neuromuscular specialist. Lamin A/C gene mutations can be associated with diverse and clearly different phenotypes ranging from neuromuscular syndromes such as Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy to unrelated diseases such as progeria and mandibuloacral dysplasia.1 Other examples of phenotypic heterogeneity represent more subtle variations within the clinical spectrum, such as mutations of SEPN1, where rigid spine muscular dystrophy shares many clinical features with multicore myopathy.2 Other diseases represent the extremes of a spectrum of severity caused by mutations in a single gene or genes, such as Duchenne and Becker muscular dystrophy, as well as Ullrich congenital muscular dystrophy and Bethlem myopathy. Now that many patients can be characterized at the genetic level, more precise genotype-phenotype associations …
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